Incidental Mutation 'IGL02267:Supt6'
ID286956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Supt6
Ensembl Gene ENSMUSG00000002052
Gene Namesuppressor of Ty 6
SynonymsSPT6, Supt6h, 5131400N11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02267
Quality Score
Status
Chromosome11
Chromosomal Location78206746-78245987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78226204 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 568 (E568G)
Ref Sequence ENSEMBL: ENSMUSP00000002121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002121]
Predicted Effect possibly damaging
Transcript: ENSMUST00000002121
AA Change: E568G

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: E568G

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:SPT6_acidic 37 127 8.8e-19 PFAM
low complexity region 146 164 N/A INTRINSIC
low complexity region 170 189 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
low complexity region 220 250 N/A INTRINSIC
low complexity region 252 267 N/A INTRINSIC
Pfam:HTH_44 305 432 1.3e-28 PFAM
low complexity region 494 509 N/A INTRINSIC
YqgFc 779 894 4.27e-21 SMART
Pfam:HHH_7 935 1038 3.1e-55 PFAM
Pfam:HHH_3 966 1036 5.2e-10 PFAM
Pfam:DLD 1051 1159 6.8e-39 PFAM
S1 1221 1282 2.8e-3 SMART
SH2 1332 1421 4.12e-11 SMART
low complexity region 1441 1454 N/A INTRINSIC
Blast:SH2 1455 1517 9e-19 BLAST
low complexity region 1586 1599 N/A INTRINSIC
low complexity region 1639 1664 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108314
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during pre-implantation development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,792,678 Q929R probably benign Het
Aplf A T 6: 87,658,964 D122E probably damaging Het
Atp2a3 T A 11: 72,987,984 L874Q probably damaging Het
Atp2b2 A T 6: 113,793,730 L406Q probably damaging Het
Atp6v1b1 A G 6: 83,756,909 D374G probably benign Het
Bcas1 T A 2: 170,378,788 R239* probably null Het
Bhmt2 A G 13: 93,669,346 V56A probably damaging Het
Cage1 T C 13: 38,023,257 E204G probably damaging Het
Ccdc157 G A 11: 4,144,035 A532V probably benign Het
Cd300lb G A 11: 114,928,477 R109* probably null Het
Clca4c-ps T C 3: 144,879,755 noncoding transcript Het
Ctnna3 G T 10: 64,945,998 V747F probably benign Het
Cyp2c29 A T 19: 39,330,422 I488F probably benign Het
Cyp3a25 T C 5: 145,998,552 M85V possibly damaging Het
Dnah7b T A 1: 46,226,930 Y2220N probably damaging Het
Espl1 A G 15: 102,315,664 I1217V probably benign Het
Exoc2 A G 13: 30,815,321 S918P probably benign Het
Fer1l4 T A 2: 156,031,252 I1303F possibly damaging Het
Gm28047 A T 15: 102,547,227 I234K probably damaging Het
Gm4951 T G 18: 60,246,398 V335G probably damaging Het
Gpcpd1 A G 2: 132,568,710 V19A probably damaging Het
Gprin3 A G 6: 59,354,473 V283A probably benign Het
Grb14 A G 2: 64,953,616 Y56H probably damaging Het
Greb1 A G 12: 16,717,208 F331S probably benign Het
Jkamp A G 12: 72,094,817 Y198C probably damaging Het
Klk1b11 G T 7: 43,999,741 C234F probably damaging Het
Nacad T C 11: 6,602,649 T181A probably benign Het
Olfr165 A T 16: 19,407,164 L285Q possibly damaging Het
Olfr382 A G 11: 73,516,549 S217P probably benign Het
Olfr987 T A 2: 85,331,121 Y259F probably damaging Het
Pitpnm3 A T 11: 72,071,448 I227N probably benign Het
Pnn A G 12: 59,070,209 E189G probably damaging Het
Pnpla2 C A 7: 141,458,209 P197T probably damaging Het
Pnpla6 A G 8: 3,517,327 T62A probably benign Het
Ptprq G T 10: 107,646,558 D1051E probably damaging Het
Rag2 C T 2: 101,630,031 R229C probably damaging Het
Serinc1 A T 10: 57,523,108 I196N probably damaging Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc26a9 T C 1: 131,752,845 C43R probably damaging Het
Slc2a3 A T 6: 122,739,972 Y44N probably benign Het
Smad5 T G 13: 56,735,790 probably benign Het
Sugct C A 13: 17,644,865 V132F possibly damaging Het
Tfpt T C 7: 3,628,983 T43A probably damaging Het
Timp4 A T 6: 115,247,279 V143E possibly damaging Het
Tns1 T C 1: 73,992,131 D275G possibly damaging Het
Trib1 A G 15: 59,651,600 E161G probably damaging Het
Trpc7 A T 13: 56,860,930 L308Q probably damaging Het
Ush1c A T 7: 46,209,298 V522E possibly damaging Het
Usp28 T C 9: 49,023,965 V449A probably damaging Het
Vmn1r82 A G 7: 12,305,346 Y64C probably damaging Het
Wwox G A 8: 114,712,065 M290I probably benign Het
Other mutations in Supt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Supt6 APN 11 78231181 missense possibly damaging 0.94
IGL01457:Supt6 APN 11 78221143 missense probably damaging 1.00
IGL01608:Supt6 APN 11 78225483 missense probably damaging 1.00
IGL01739:Supt6 APN 11 78222187 missense probably damaging 1.00
IGL01765:Supt6 APN 11 78222159 missense probably benign 0.09
IGL01894:Supt6 APN 11 78222838 missense probably benign 0.00
IGL01952:Supt6 APN 11 78225760 missense probably benign 0.01
IGL02067:Supt6 APN 11 78231157 missense probably benign 0.01
IGL02244:Supt6 APN 11 78232797 missense possibly damaging 0.92
IGL02379:Supt6 APN 11 78225369 missense possibly damaging 0.75
IGL02541:Supt6 APN 11 78226918 missense probably damaging 0.99
IGL02635:Supt6 APN 11 78212739 missense probably damaging 1.00
IGL03347:Supt6 APN 11 78232185 missense possibly damaging 0.71
IGL02980:Supt6 UTSW 11 78225722 missense probably damaging 1.00
IGL02991:Supt6 UTSW 11 78225353 missense probably damaging 1.00
R0145:Supt6 UTSW 11 78208236 missense probably benign 0.22
R0371:Supt6 UTSW 11 78223157 missense probably benign 0.00
R0452:Supt6 UTSW 11 78227003 missense probably damaging 1.00
R0464:Supt6 UTSW 11 78216338 missense probably benign 0.33
R0616:Supt6 UTSW 11 78209495 missense probably damaging 1.00
R0653:Supt6 UTSW 11 78226015 missense probably benign 0.01
R0788:Supt6 UTSW 11 78207772 unclassified probably benign
R1103:Supt6 UTSW 11 78225473 missense possibly damaging 0.59
R1282:Supt6 UTSW 11 78228768 missense possibly damaging 0.83
R1460:Supt6 UTSW 11 78222198 missense possibly damaging 0.93
R1508:Supt6 UTSW 11 78216203 critical splice donor site probably null
R1850:Supt6 UTSW 11 78219877 splice site probably benign
R1854:Supt6 UTSW 11 78232540 missense possibly damaging 0.51
R1855:Supt6 UTSW 11 78232540 missense possibly damaging 0.51
R2054:Supt6 UTSW 11 78224361 splice site probably benign
R2098:Supt6 UTSW 11 78213261 splice site probably null
R2146:Supt6 UTSW 11 78230932 missense probably damaging 1.00
R2167:Supt6 UTSW 11 78208167 missense possibly damaging 0.94
R4621:Supt6 UTSW 11 78212746 missense possibly damaging 0.65
R4734:Supt6 UTSW 11 78224683 missense probably benign 0.01
R4825:Supt6 UTSW 11 78208134 missense possibly damaging 0.84
R5575:Supt6 UTSW 11 78228961 missense probably damaging 1.00
R5789:Supt6 UTSW 11 78233586 missense unknown
R5889:Supt6 UTSW 11 78212748 missense probably damaging 0.98
R6296:Supt6 UTSW 11 78226059 missense possibly damaging 0.48
R6297:Supt6 UTSW 11 78226059 missense possibly damaging 0.48
R6394:Supt6 UTSW 11 78231065 missense probably damaging 1.00
R6702:Supt6 UTSW 11 78231800 missense possibly damaging 0.93
R6737:Supt6 UTSW 11 78231818 missense probably damaging 0.99
R6751:Supt6 UTSW 11 78208949 missense probably benign 0.09
R6853:Supt6 UTSW 11 78232830 missense possibly damaging 0.85
R7213:Supt6 UTSW 11 78232150 missense probably damaging 1.00
R7259:Supt6 UTSW 11 78207616 missense probably damaging 0.99
R7609:Supt6 UTSW 11 78226951 missense probably benign 0.01
R7776:Supt6 UTSW 11 78209529 missense probably damaging 0.99
X0067:Supt6 UTSW 11 78232675 missense probably benign
Z1176:Supt6 UTSW 11 78211836 missense probably damaging 1.00
Posted On2015-04-16